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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGS
(L479*)
Single nucleotide variant
(nonsense)
Glycosylphosphatidylinositol biosynthesis defect 18
GLikely pathogenic
PIGS
(V13L)
Single nucleotide variant
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 18
GUncertain significance